Canonical Allele Identifier: CA515714802

Gene: DMD

Linked Data

• ClinVar Variation Id: 1576200
• ClinVar RCV Id: RCV002085261 ; RCV002346408
• dbSNP Id: rs2147260232
• MyVariant Identifiers: chrX:g.32383242T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.32365125T>G , CM000685.2:g.32365125T>G	GRCh38
NC_000023.10:g.32383242T>G , CM000685.1:g.32383242T>G	GRCh37
NC_000023.9:g.32293163T>G	NCBI36
NG_012232.1:g.979485A>C , LRG_199:g.979485A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357033.9:c.4920A>C MANE Select	ENSP00000354923.3:p.Thr1640=
ENST00000619831.5:c.888A>C	ENSP00000479270.2:p.Thr296=
ENST00000357033.8:c.4920A>C	ENSP00000354923.3:p.Thr1640=
ENST00000378677.6:c.4908A>C	ENSP00000367948.2:p.Thr1636=
ENST00000420596.5:c.168A>C	ENSP00000399897.1:p.Thr56=
ENST00000448370.5:c.94-415A>C	ENSP00000388559.1:n.94-415A>C
ENST00000488902.5:n.336-148062A>C
ENST00000619831.4:c.4908A>C	ENSP00000479270.1:p.Thr1636=
ENST00000620040.4:c.4920A>C	ENSP00000478150.1:p.Thr1640=
NM_000109.3:c.4896A>C	NP_000100.2:p.Thr1632=
NM_004006.2:c.4920A>C , LRG_199t1:c.4920A>C	NP_003997.1:p.Thr1640=
NM_004009.3:c.4908A>C	NP_004000.1:p.Thr1636=
NM_004010.3:c.4551A>C	NP_004001.1:p.Thr1517=
NM_004011.3:c.897A>C	NP_004002.2:p.Thr299=
NM_004012.3:c.888A>C	NP_004003.1:p.Thr296=
XM_006724468.2:c.4920A>C	XP_006724531.1:p.Thr1640=
XM_006724469.2:c.4896A>C	XP_006724532.1:p.Thr1632=
XM_006724470.2:c.4920A>C	XP_006724533.1:p.Thr1640=
XM_006724471.2:c.4920A>C	XP_006724534.1:p.Thr1640=
XM_006724472.2:c.4791A>C	XP_006724535.1:p.Thr1597=
XM_006724473.2:c.4920A>C	XP_006724536.1:p.Thr1640=
XM_006724474.2:c.4920A>C	XP_006724537.1:p.Thr1640=
XM_006724475.2:c.4920A>C	XP_006724538.1:p.Thr1640=
XM_011545467.1:c.4920A>C	XP_011543769.1:p.Thr1640=
XM_011545468.1:c.4920A>C	XP_011543770.1:p.Thr1640=
XM_011545469.1:c.4920A>C	XP_011543771.1:p.Thr1640=
XM_006724469.3:c.4896A>C	XP_006724532.1:p.Thr1632=
XM_006724470.3:c.4920A>C	XP_006724533.1:p.Thr1640=
XM_006724474.3:c.4920A>C	XP_006724537.1:p.Thr1640=
XM_011545468.2:c.4920A>C	XP_011543770.1:p.Thr1640=
XM_017029328.1:c.4920A>C	XP_016884817.1:p.Thr1640=
XM_017029329.1:c.4920A>C	XP_016884818.1:p.Thr1640=
XM_017029330.2:c.4920A>C	XP_016884819.1:p.Thr1640=
NM_000109.4:c.4896A>C	NP_000100.3:p.Thr1632=
NM_004006.3:c.4920A>C MANE Select	NP_003997.2:p.Thr1640=
NM_004011.4:c.897A>C	NP_004002.3:p.Thr299=
NM_004012.4:c.888A>C	NP_004003.2:p.Thr296=